MCID: RNL100
MIFTS: 50

Renal Hypodysplasia/aplasia 1 malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Renal Hypodysplasia/aplasia 1

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Sources:
49OMIM, 22GeneTests, 67UniProtKB/Swiss-Prot, 10Disease Ontology, 45NIH Rare Diseases, 47Novoseek, 12DISEASES, 51Orphanet, 11diseasecard, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 27ICD10, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Renal Hypodysplasia/aplasia 1:

Name: Renal Hypodysplasia/aplasia 1 49 22 67
Renal Agenesis 49 10 45 22 47 12 51 67
Renal Adysplasia 10 11 22 67 24 65
Renal Aplasia 10 22 67
Rhda1 22 67
Congenital Absence of Kidneys Syndrome 65
 
Urogenital Adysplasia, Hereditary 22
Hereditary Urogenital Adysplasia 10
Renal Agenesis, Bilateral 51
Hereditary Renal Aplasia 10
Bilateral Renal Agenesis 22
Bra 22

Characteristics:

Orphanet epidemiological data:

51
renal agenesis, bilateral:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-9/100000 (Germany),1-9/100000 (Italy),1-9/100000 (Netherlands),1-5/10000 (Ireland),1-9/100000 (Norway),1-9/100000 (Poland),1-9/1000000 (Spain),1-9/100000 (Hungary),1-5/10000 (Denmark),1-9/100000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Malta),1-9/100000 (United Kingdom),1-9/100000 (Ukraine); Age of onset: Antenatal; Age of death: infantile

HPO:

61
renal hypodysplasia/aplasia 1:
Onset and clinical course: congenital onset
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 191830
Disease Ontology10 DOID:14766
Orphanet51 1848, 411709
ICD10 via Orphanet28 Q60.1, Q60.0, Q60.2
MESH via Orphanet37 C536482
ICD1027 Q60.1
UMLS65 C1619700, C1609433

Summaries for Renal Hypodysplasia/aplasia 1

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OMIM:49 Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia,... (191830) more...

MalaCards based summary: Renal Hypodysplasia/aplasia 1, also known as renal agenesis, is related to renal agenesis, unilateral and aniridia renal agenesis psychomotor retardation, and has symptoms including epicanthus, hypertelorism and abnormality of the nose. An important gene associated with Renal Hypodysplasia/aplasia 1 is ITGA8 (Integrin Subunit Alpha 8), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include kidney, lung and uterus, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

UniProtKB/Swiss-Prot:67 Renal hypodysplasia/aplasia 1: A perinatally lethal renal disease encompassing a spectrum of kidney development defects, including renal agenesis, bilateral renal aplasia, hypoplasia, (cystic) dysplasia, and severe obstructive uropathy.

Related Diseases for Renal Hypodysplasia/aplasia 1

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Diseases in the Renal Hypodysplasia/aplasia 1 family:

Renal Hypodysplasia/aplasia 2

Diseases related to Renal Hypodysplasia/aplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 389)
idRelated DiseaseScoreTop Affiliating Genes
1renal agenesis, unilateral12.5
2aniridia renal agenesis psychomotor retardation12.4
3double uterus-hemivagina-renal agenesis12.3
4bilateral renal agenesis dominant type12.3
5renal agenesis meningomyelocele mullerian defect12.3
6bifid nose with or without anorectal and renal anomalies11.6
7billet bear syndrome11.3
8ellis yale winter syndrome11.3
9holzgreve syndrome11.3
10murcs association11.3
11santos mateus leal syndrome11.3
12upk3a-related renal adysplasia11.3
13potter's syndrome11.0
14primary hyperoxaluria10.7
15renal hypoplasia10.7
16renal hypoplasia, unilateral10.6
17renal hypoplasia, bilateral10.6
18renal hypodysplasia/aplasia 210.5
19papillorenal syndrome10.5
20oligomeganephronic renal hypoplasia10.5
21congenital anomalies of kidney and urinary tract10.4
22pelviureteric junction obstruction10.4
23linear nevus sebaceus syndrome10.4AGTR2, PAX2
24breast cancer10.3
25afferent loop syndrome10.3CFTR, GDNF, RET
26hepatitis10.3
27hepatocellular carcinoma10.3
28adenocarcinoma10.3
29fraser syndrome10.3
30kallmann syndrome10.3
31urogenital adysplasia10.3
32leukemia10.3
33lymphoma10.3
34chromosome 15q25 deletion syndrome10.3FRAS1, FREM2
35parametritis10.3GDNF, RET, SIX5
36c9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia10.2EYA1, SIX5
37monieziasis10.2CFTR, FREM1
38colorectal cancer10.2
39hiv-110.2
40cervicitis10.2
41pancreatitis10.2
42endotheliitis10.2
43tooth agenesis, selective, 210.2EYA1, SALL1
44prostatitis10.2
45ovarian cancer10.2
46acute laryngopharyngitis10.1FRAS1, FREM2, GRIP1
47pauci-immune glomerulonephritis10.1FRAS1, FREM1, FREM2, RET
48auriculocondylar syndrome 310.1EYA1, SALL1, SIX5
49microphthalmia, isolated 110.1FRAS1, HOXA2, SALL1
50central hypoventilation syndrome, congenital10.1GDNF, RET

Graphical network of the top 20 diseases related to Renal Hypodysplasia/aplasia 1:



Diseases related to renal hypodysplasia/aplasia 1

Symptoms for Renal Hypodysplasia/aplasia 1

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Symptoms by clinical synopsis from OMIM:

191830

Clinical features from OMIM:

191830

Symptoms:

 51 (show all 18)
  • hypertelorism
  • epicanthic folds
  • short columella/depressed nasal tip
  • low set ears/posteriorly rotated ears
  • hypoplastic lungs/pulmonary hypoplasia/agenesis
  • agenesis/hypoplasia/aplasia of kidneys
  • stillbirth/neonatal death
  • oligoamnios
  • micrognathia/retrognathia/micrognathism/retrognathism
  • sacro-coccyx/sacrum anomaly
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • intestinal/colonic anomaly
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • congenital cardiac anomaly/malformation/cardiopathy
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • sirenomelia/mermaid/lower limb fusion
  • uterine/uterus/fallopian tubes anomalies

HPO human phenotypes related to Renal Hypodysplasia/aplasia 1:

(show all 31)
id Description Frequency HPO Source Accession
1 epicanthus hallmark (90%) HP:0000286
2 hypertelorism hallmark (90%) HP:0000316
3 abnormality of the nose hallmark (90%) HP:0000366
4 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
5 oligohydramnios hallmark (90%) HP:0001562
6 aplasia/hypoplasia of the lungs hallmark (90%) HP:0006703
7 renal hypoplasia/aplasia hallmark (90%) HP:0008678
8 micrognathia typical (50%) HP:0000347
9 abnormality of the intestine typical (50%) HP:0002242
10 tracheoesophageal fistula typical (50%) HP:0002575
11 abnormality of the sacrum typical (50%) HP:0005107
12 urogenital fistula typical (50%) HP:0100589
13 abnormality of female internal genitalia occasional (7.5%) HP:0000008
14 cleft palate occasional (7.5%) HP:0000175
15 sirenomelia occasional (7.5%) HP:0010497
16 non-midline cleft lip occasional (7.5%) HP:0100335
17 pulmonary hypoplasia HP:0002089
18 potter facies HP:0002009
19 talipes equinovarus HP:0001762
20 abnormality of the foot HP:0001760
21 oligohydramnios HP:0001562
22 hypertension HP:0000822
23 bicornuate uterus HP:0000813
24 primary amenorrhea HP:0000786
25 low-set ears HP:0000369
26 hypertelorism HP:0000316
27 retrognathia HP:0000278
28 vaginal atresia HP:0000148
29 renal dysplasia HP:0000110
30 renal agenesis HP:0000104
31 proteinuria HP:0000093

Drugs & Therapeutics for Renal Hypodysplasia/aplasia 1

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Renal Hypodysplasia/aplasia 1

Genetic Tests for Renal Hypodysplasia/aplasia 1

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Genetic tests related to Renal Hypodysplasia/aplasia 1:

id Genetic test Affiliating Genes
1 Renal Agenesis22 RET
2 Renal Hypodysplasia/aplasia 122 ITGA8
3 Urogenital Adysplasia, Hereditary22

Anatomical Context for Renal Hypodysplasia/aplasia 1

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MalaCards organs/tissues related to Renal Hypodysplasia/aplasia 1:

33
Kidney, Lung, Uterus, Colon

Animal Models for Renal Hypodysplasia/aplasia 1 or affiliated genes

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MGI Mouse Phenotypes related to Renal Hypodysplasia/aplasia 1:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.5FRAS1, FREM1, FREM2, GRIP1, RET, SALL1
2MP:00053798.9AGTR2, CFTR, EYA1, FREM1, GDNF, PAX2
3MP:00053828.7CFTR, EYA1, FRAS1, FREM1, FREM2, HOXA2
4MP:00053918.7CFTR, EYA1, FRAS1, FREM1, FREM2, GRIP1
5MP:00053778.6EYA1, FGF20, FREM2, HOXA2, ITGA8, PAX2
6MP:00053898.2CFTR, EYA1, FREM1, FREM2, GDNF, PAX2
7MP:00028738.1CFTR, EYA1, FREM1, HOXA2, RET, ROBO2
8MP:00053888.0CFTR, EYA1, FRAS1, FREM1, FREM2, HOXA2
9MP:00053817.7AGTR2, CFTR, EYA1, FRAS1, FREM1, GDNF
10MP:00053697.6AGTR2, EYA1, FREM1, FREM2, GDNF, HOXA2
11MP:00053787.5AGTR2, CFTR, EYA1, FRAS1, FREM1, FREM2
12MP:00053847.1AGTR2, CFTR, EYA1, FRAS1, GDNF, HOXA2
13MP:00036317.1AGTR2, EYA1, FGF20, FREM1, FREM2, GDNF
14MP:00053677.1AGTR2, EYA1, FRAS1, FREM1, FREM2, GDNF
15MP:00053856.5AGTR2, EYA1, FRAS1, FREM2, GDNF, GRIP1
16MP:00107686.1AGTR2, CFTR, EYA1, FRAS1, FREM1, FREM2

Publications for Renal Hypodysplasia/aplasia 1

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Variations for Renal Hypodysplasia/aplasia 1

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UniProtKB/Swiss-Prot genetic disease variations for Renal Hypodysplasia/aplasia 1:

67
id Symbol AA change Variation ID SNP ID
1ITGA8p.Gly407ArgVAR_071107

Clinvar genetic disease variations for Renal Hypodysplasia/aplasia 1:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ITGA8NM_003638.2(ITGA8): c.2982+2T> Csingle nucleotide variantPathogenicrs587777279GRCh37Chr 10, 15573047: 15573047
2ITGA8NM_003638.2(ITGA8): c.1622_1626delAGGTG (p.Glu541Alafs)deletionPathogenicrs587777280GRCh37Chr 10, 15649814: 15649818
3ITGA8NM_003638.2(ITGA8): c.1219G> A (p.Gly407Arg)single nucleotide variantPathogenicrs374664941GRCh37Chr 10, 15686209: 15686209

Expression for genes affiliated with Renal Hypodysplasia/aplasia 1

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Search GEO for disease gene expression data for Renal Hypodysplasia/aplasia 1.

Pathways for genes affiliated with Renal Hypodysplasia/aplasia 1

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Pathways related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.8CFTR, GDNF, PAX2

GO Terms for genes affiliated with Renal Hypodysplasia/aplasia 1

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Biological processes related to Renal Hypodysplasia/aplasia 1 according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1ureter maturationGO:003579910.7PAX2, RET
2positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesisGO:007210810.7GDNF, PAX2
3positive regulation of metanephric glomerulus developmentGO:007230010.7AGTR2, PAX2
4cell communicationGO:000715410.4FREM1, FREM2
5positive regulation of branching involved in ureteric bud morphogenesisGO:009019010.4AGTR2, GDNF, PAX2
6outer ear morphogenesisGO:004247310.4EYA1, SALL1
7mesenchymal to epithelial transition involved in metanephros morphogenesisGO:000333710.2PAX2, SALL1, SIX2
8mesodermal cell fate specificationGO:000750110.1EYA1, PAX2, SIX2
9inner ear morphogenesisGO:004247210.0EYA1, ITGA8, PAX2
10middle ear morphogenesisGO:00424749.9HOXA2, SIX2
11kidney developmentGO:00018229.9ITGA8, SALL1, SIX2
12cell fate determinationGO:00017099.7HOXA2, PAX2
13cellular response to retinoic acidGO:00713009.5HOXA2, PAX2, RET
14ureteric bud developmentGO:00016579.4EYA1, GDNF, ROBO2, SALL1
15positive regulation of transcription from RNA polymerase II promoterGO:00459449.1EYA1, GDNF, PAX2, SALL1, SIX2

Sources for Renal Hypodysplasia/aplasia 1

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet